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Article

Analysis of disease-causing GATA1 mutations in murine gene complementation systems

24 May 2013

Abstract excerpt

Missense mutations in transcription factor GATA1 underlie a spectrum of congenital red blood cell and platelet disorders. We investigated how these alterations cause distinct clinical phenotypes by combining structural, biochemical, and genomic approaches with gene complementation systems that examine GATA1 function in biologically relevant cellular contexts. Substitutions that disrupt FOG1 cofactor binding...

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Identifiers

PMID: 23704091
DOI: 10.1182/blood-2013-03-488080

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